نتائج البحث - Alex R. Paciorkowski

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  1. 1
    Autism spectrum disorder and epilepsy: Disorders with a shared biology

    Autism spectrum disorder and epilepsy: Disorders with a shared biology حسب Bo Hoon Lee, Tristram Smith, Alex R. Paciorkowski

    منشور في 2015
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  2. 2
    Genetic and Biologic Classification of Infantile Spasms

    Genetic and Biologic Classification of Infantile Spasms حسب Alex R. Paciorkowski, Liu Lin Thio, William B. Dobyns

    منشور في 2011
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  3. 3
    Comparison of insertion/deletion calling algorithms on human next-generation sequencing data

    Comparison of insertion/deletion calling algorithms on human next-generation sequencing data حسب Dalia Ghoneim, Jason R. Myers, Emily Tuttle, Alex R. Paciorkowski

    منشور في 2014
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  4. 4
    BioVR: a platform for virtual reality assisted biological data integration and visualization

    BioVR: a platform for virtual reality assisted biological data integration and visualization حسب Jimmy F. Zhang, Alex R. Paciorkowski, P. Craig, Feng Cui

    منشور في 2019
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  5. 5
    Epilepsy and outcome in <i>FOXG1</i>‐related disorders

    Epilepsy and outcome in <i>FOXG1</i>‐related disorders حسب Laurie E. Seltzer, Mandy Ma, Sohnee Ahmed, Mary Bertrand, William B. Dobyns, James W. Wheless, Alex R. Paciorkowski

    منشور في 2014
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  6. 6
    Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

    Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism حسب Ghayda Mirzaa, Benjamin Vitre, Gillian Carpenter, I Abramowiçz, Joseph G. Gleeson, Alex R. Paciorkowski, Don W. Cleveland, William B. Dobyns, Mark O’Driscoll

    منشور في 2014
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  7. 7
    Early Brain Vulnerability in Wolfram Syndrome

    Early Brain Vulnerability in Wolfram Syndrome حسب Tamara Hershey, Heather M. Lugar, Joshua S. Shimony, Jerrel Rutlin, Jonathan M. Koller, Dana C. Perantie, Alex R. Paciorkowski, Sarah A. Eisenstein, M. Alan Permutt

    منشور في 2012
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  8. 8
    Phenotypes, genotypes, and the management of paroxysmal movement disorders

    Phenotypes, genotypes, and the management of paroxysmal movement disorders حسب Laura Silveira‐Moriyama, Stjepana Kovac, Manju A. Kurian, Henry Houlden, Andrew Lees, Matthew C. Walker, Emmanuel Roze, Alex R. Paciorkowski, Jonathan W. Mink, Thomas T. Warner

    منشور في 2018
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  9. 9
    Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

    Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption حسب Alex R. Paciorkowski, Kim M. Keppler‐Noreuil, Luther K. Robinson, Christopher T. Sullivan, Samin A. Sajan, Susan L. Christian, Polina Bukshpun, Stacy Gabriel, Joseph G. Gleeson, Elliott H. Sherr, William B. Dobyns

    منشور في 2013
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  10. 10
    De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

    De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy حسب Thomas D. Cushion, Alex R. Paciorkowski, Daniela T. Pilz, Jonathan G.L. Mullins, Laurie E. Seltzer, Robert W. Marion, Emily Tuttle, Dalia Ghoneim, Susan L. Christian, Seo‐Kyung Chung, Mark I. Rees, William B. Dobyns

    منشور في 2014
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  11. 11
    CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

    CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy حسب Ghayda Mirzaa, Alex R. Paciorkowski, Eric D. Marsh, Elizabeth Berry‐Kravis, Līvija Medne, Art Grix, Elaine Wirrell, Berkley R. Powell, Katherine Nickels, Barbara K. Burton, Andrea Paras, Katherine Kim, Wendy K. Chung, William B. Dobyns, Soma Das

    منشور في 2013
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  12. 12
    De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

    De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies حسب Jeanne N. Hansen, Chelsi J. Snow, Emily Tuttle, Dalia Ghoneim, Chunsong Yang, Adam Spencer, Sonya A. Gunter, Christopher D. Smyser, Christina A. Gurnett, Marwan Shinawi, William B. Dobyns, James W. Wheless, Marc W. Halterman, Laura A. Jansen, Bryce M. Paschal, Alex R. Paciorkowski

    منشور في 2015
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  13. 13
    Novel mutations in <i>ATP1A3</i> associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

    Novel mutations in <i>ATP1A3</i> associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly حسب Alex R. Paciorkowski, Sharon S. McDaniel, Laura A. Jansen, Hannah M. Tully, Emily Tuttle, Dalia Ghoneim, Srinivasan Tupal, Sonya A. Gunter, Valeria Vasta, Qing Zhang, Thao Tran, Yi B. Liu, Laurie J. Ozelius, Allison Brashear, Kathleen J. Sweadner, William B. Dobyns, Sihoun Hahn

    منشور في 2015
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  14. 14
    Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

    Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression حسب Heather E. Olson, McKenna Kelly, Christopher M. LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H. Libenson, Kristina Jülich, Tobias Loddenkemper, Eric D. Marsh, Devorah Segal, Susan Koh, Michael S. Salman, Alex R. Paciorkowski, Edward Yang, Ann M. Bergin, Beth Rosen Sheidley, Annapurna Poduri

    منشور في 2017
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  15. 15
    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function حسب Alex R. Paciorkowski, Liu Lin Thio, Jill A. Rosenfeld, Marzena Gajęcka, Christina A. Gurnett, Shashikant Kulkarni, Wendy K. Chung, Eric D. Marsh, Mattia Gentile, James D. Reggin, James W. Wheless, Sandhya Balasubramanian, Ravinesh A. Kumar, Susan L. Christian, Carla Marini, Renzo Guerrini, Natalia Maltsev, Lisa G. Shaffer, William B. Dobyns

    منشور في 2011
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  16. 16
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment حسب Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    منشور في 2010
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  17. 17
    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

    MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways حسب Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld, Jacqueline M. Hoover, Catharine Harris, Susan Winter, Yves Lacassie, Martin G. Bialer, Allen N. Lamb, Roger A. Schultz, Elizabeth Berry‐Kravis, Brenda E. Porter, Marni J. Falk, Anu Venkat, Rena Vanzo, Julie S. Cohen, Ali Fatemi, William B. Dobyns, Lisa G. Shaffer, Blake C. Ballif, Eric D. Marsh

    منشور في 2013
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  18. 18
    Association of Severe Hydrocephalus With Congenital Zika Syndrome

    Association of Severe Hydrocephalus With Congenital Zika Syndrome حسب Vanessa van der Linden, Natacha Calheiros de Lima Petribu, André Pessoa, Igor Vilela Faquini, Alex R. Paciorkowski, Hélio van der Linden, Laura Silveira‐Moriyama, Marli Tenório Cordeiro, Adriano Nassri Hazin, A. James Barkovich, Charles Raybaud, Marília De Brito Abath, Erlane Marques Ribeiro, Carlos Eduardo Barros Jucá, Máría de Fátima Viana Vasco Aragão, P.T.C. Travassos, Patrícia Jungmann

    منشور في 2018
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  19. 19
    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome حسب Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara, Jeremy Schwartzentruber, Melissa T. Carter, Leo J. Lee, Carol L. Clericuzio, John M. Graham, Deborah Morris‐Rosendahl, Tilman Polster, Gyula Acsádi, Sharron Townshend, Simon Williams, Anne Halbert, Bertrand Isidor, Albert David, Christopher D. Smyser, Alex R. Paciorkowski, Marcia Willing, John Woulfe, Soma Das, Chandree L. Beaulieu, Janet Marcadier, Michael T. Geraghty, Brendan J. Frey, Jacek Majewski, Dennis E. Bulman, William B. Dobyns, Mark O’Driscoll, Kym M. Boycott

    منشور في 2013
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  20. 20
    Mendelian etiologies identified with whole exome sequencing in cerebral palsy

    Mendelian etiologies identified with whole exome sequencing in cerebral palsy حسب Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David L. Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian D. Snyder, Scellig Stone, Ana Ubeda, Colyn J. Watkins, Charles B. Berde, Jeffrey Bolton, Catherine A. Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O’Donnell‐Luria, Alex R. Paciorkowski, Anna Maria Pinto, John Pugh, Lance H. Rodan, Eugene Roe, Lindsay C. Swanson, Bo Zhang, Michael C. Kruer, Mustafa Şahin, Annapurna Poduri, Siddharth Srivastava

    منشور في 2022
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